Linked Data
ClinVar Variation Id:
391029
ClinVar RCV Id:
RCV001704538
dbSNP Id:
rs200383424
ExAC:
11:18428843 A / G
gnomAD v2:
11-18428843-A-G
gnomAD v3:
11-18407296-A-G
gnomAD v4:
11-18407296-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.18407296A>G , CM000673.2:g.18407296A>G | GRCh38 |
| NC_000011.9:g.18428843A>G , CM000673.1:g.18428843A>G | GRCh37 |
| NC_000011.8:g.18385419A>G | NCBI36 |
| NG_008185.1:g.17862A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000422447.8:c.*15A>G MANE Select | ENSP00000395337.3:n.*15A>G | |
| ENST00000227157.8:c.*164A>G | ENSP00000227157.4:n.*164A>G | |
| ENST00000375710.7:n.1881A>G | ||
| ENST00000379412.9:c.*15A>G | ENSP00000368722.5:n.*15A>G | |
| ENST00000396222.6:c.745A>G | ENSP00000379524.2:p.Ile249Val | |
| ENST00000422447.7:c.*15A>G | ENSP00000395337.3:n.*15A>G | |
| ENST00000430553.6:c.*15A>G | ENSP00000406172.2:n.*15A>G | |
| ENST00000538451.1:n.901A>G | ||
| ENST00000540430.5:c.*15A>G | ENSP00000445175.1:n.*15A>G | |
| ENST00000545215.5:c.*758A>G | ENSP00000442637.1:n.*758A>G | |
| NM_001135239.1:c.*15A>G | NP_001128711.1:n.*15A>G | |
| NM_001165414.1:c.*15A>G | NP_001158886.1:n.*15A>G | |
| NM_001165415.1:c.745A>G | NP_001158887.1:p.Ile249Val | |
| NM_001165416.1:c.*164A>G | NP_001158888.1:n.*164A>G | |
| NM_005566.3:c.*15A>G | NP_005557.1:n.*15A>G | |
| NR_028500.1:n.1168A>G | ||
| NM_005566.4:c.*15A>G MANE Select | NP_005557.1:n.*15A>G | |
| NM_001165415.2:c.745A>G | NP_001158887.1:p.Ile249Val | |
| NM_001135239.2:c.*15A>G | NP_001128711.1:n.*15A>G | |
| NM_001165414.2:c.*15A>G | NP_001158886.1:n.*15A>G | |
| NM_001165416.2:c.*164A>G | NP_001158888.1:n.*164A>G | |
| NR_028500.2:n.994A>G |